Commercial genome sequencing as ‘health screening’ launched

Human
Longevity, the company founded by Human Genome
sequencing pioneer Craig Venter, has announced
plansto launch a new commercial genome sequencing service in the UK
and South Africa.

Working
in partnership with South African insurance company Discovery Ltd, Human
Longevity will provide whole genome, whole exome and cancer genome sequencing
for Discovery’s UK and SA clients via their Vitality Program, ‘behavioral
wellness solution that helps people get healthier by giving them the tools,
knowledge, access and incentives to improve their health’. Insurance providers are increasingly interested in
promoting good health behaviours (for example, by providing personal fitness
trackers such as the FitBit) – and incentivising them via reduced premiums.

The
genome sequencing price tag for clients is set at just US $250, well below cost
(even using the ground-breaking high-throughput Illumina HiSeq X-Ten).
The two companies will also create new HLI Longevity Nucleus centres in both countries,
modelling the one set to open in the US next month, where clients will receive
a ‘complete
biological and health assessment of themselves through genome, microbiome,
metabolome sequencing, along with comprehensive MRI body scans and other more
traditional clinical testing’.

To screen or not to screen?

Cancer genome
sequencing is not really a form of health screening, since it is undertaken in
the context of diagnosed cancer and compares tumour with non-tumour sequences;
expert analysis of the genes that are overexpressed in the tumour can inform
the choice of treatment. Similarly, whole exome or genome analysis in the
context of searching for the cause of an existing disease is very different from
a prospective approach.

Opinions are
divided as to whether any form of ‘opportunistic screening’ is generally advisable,
in part because of the risks of over-diagnosis, or of the psychological harms
that might arise from unexpected discoveries. In terms of clinical genome
analysis, an open-ended ‘fishing trip’ approach is even more complex because
the current limitations of knowledge about whether individual genetic variants
are harmful, benign or neutral in their health impact are very limited.
However, the company may intend to apply only a gene panel approach, analysing
a complete genome or exome sequence for a set of specific, clinically validated
genetic variants linked with specific medical conditions and perhaps storing
the full sequence for comparison with any future cancer genome sequences that
may be produced.

Similarly,
whilst there is considerable interest in the potential clinical applications of
metabolomic and microbiomic analyses, the
fields are in their infancy, especially microbiomics, and so the capacity for
reliable clinical interpretation is limited.

A vision of the future?

Discovery
Health CEO Dr Jonathan
Broomberg said of the announcement: "We believe that this is a pioneering approach in global health
insurance, and will enable us to provide our clients with the world's most advanced,
current knowledge on their genetically determined disease risks, as well as on
personalized health, wellness and medical treatment strategies”.

The increasing (and understandable)
interest of insurance companies and employers in both promoting good health and
preventing disease has already been noted. Whilst
prevention is certainly better than cure – and whilst genomics offers
increasing (but still limited) opportunities to improve risk prediction,
disease prevention and in some cases
treatment too – some concerns over this trend are justifiable. The Genetic Insurance
Non-Discrimination Act (GINA) precludes health insurers from barring
clients on the basis of genetic test information in the US; in the UK, there is
a voluntary moratorium on
using most genetic test results from the Association of British Insurers. But
setting aside concerns about discrimination, could employers or insurers be
profiting from persuading customers into genomic screening?

Personal genomics company 23andMe
has similarly priced offerings, although they do not (yet) provide whole genome
sequencing; one academic ethicist has said that effectively ‘people are
paying to be volunteers’in the
large-scale research that the company is undertaking; this could represent more
of the same. The de-identified genomic data generated
by Longevity’s new programme will also be used by Human Longevity for ongoing
research with global collaborators. This is not necessarily a bad thing, since
the outcomes of such research are likely to be new medical insights and
innovations – but there are undoubtedly profits to be made too, so appropriate
consent processes are more important than ever.

Unsurprisingly,
Longevity has no plans to share their data with the US government’s publicly-funded
Precision Medicine Initiative.
Venter has reportedly said:
“I think this notion that you can have
genome sequences from public databases is extremely naïve…We’re worried there
will be future lawsuits from people who were guaranteed anonymity who will
clearly not have it”.